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Cloacal Dysgenesis Sequence.

Nicolae Gică1,2, Livia Apostol2, Iulia Huluță1,2

  • 1Obstetrics and Gynecology Department, Faculty of Medicine, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.

Diagnostics (Basel, Switzerland)
|December 9, 2023
PubMed
Summary

This study reports a rare case of cloacal dysgenesis sequence (CDS), a severe congenital anomaly, diagnosed in utero. The condition involves the absence of key anatomical openings, highlighting the importance of early fetal anomaly detection.

Keywords:
cloacal dysgenesis sequencefetal obstructive uropathykeyhole sign

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Pediatric Surgery

Background:

  • Cloacal dysgenesis sequence (CDS) is a rare and complex congenital anomaly.
  • Early detection of fetal anomalies is crucial for management and counseling.

Purpose of the Study:

  • To present a rare case of cloacal dysgenesis sequence (CDS) diagnosed prenatally.
  • To highlight the ultrasound findings associated with CDS and fetal obstructive uropathy (FOU).

Main Methods:

  • Case report of a singleton pregnancy.
  • Detailed fetal ultrasound examination at 23 weeks of gestation.
  • Postmortem examination for diagnostic confirmation.

Main Results:

  • Ultrasound revealed anhydramnios, megacystis, the "keyhole sign," and empty renal fossae, suggestive of FOU.
  • Postmortem confirmed CDS, characterized by absent anal, genital, and urinary openings with a phallus-like structure and intact perineum.

Conclusions:

  • CDS is a severe congenital malformation requiring accurate prenatal diagnosis.
  • The described ultrasound findings are indicative of CDS and associated uropathy.
  • This case underscores the challenges and importance of diagnosing rare fetal conditions.